Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

End-stage renal disease (ESRD)

OMIM:
Mode of inheritance:Multifactorial
Disease classification:Diseases of the circulatory system


Polymorphisms

Gene symbolAPOE
DNA Change
A.A. Change[E2:ARG158CYS] [E3:CYS112 AND ARG158] [E4:CYS112ARG]
Variation Typeothers
Cases109 end-stage renal disease patients
Controls97 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
e373%82%1
e23%6%0.473 (0.181-1.235)0.093
e424%12%0.491 (0.277-0.870)0.009
E3/E348%67%1
E2/E35%10%0.613 (0.197-1.904)0.285
E2/E42%3%0.818 (0.132–5.074)0.600
E3/E445%20%0.316 (0.166–0.601)<0.001
ReferenceLahrach H, Essiarab F, Timinouni M, Hatim B, El Khayat S, Er-Rachdi L, Jarir J, Kettani A, Ghalim N, Taki H, Lebrazi H, Ramdani B, Saïle R.Association of apolipoprotein E gene polymorphism with end-stage renal disease and hyperlipidemia in patients on long-term hemodialysis.
Ren Fail. 2014 Nov;36(10):1504-9.


Variant not named according to HGVS recommendations